Global Variome shared LOVD

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Phenotype #0000333148 Individual ID 00443871 Associated disease DEE Diagnosis/Initial West syndrome Diagnosis/Definite DEE89 Phenotype details see paper; ..., <6m-epileptic spasms; 3y-generalized tonic-clonic seizures; EEG at onset hypsarrhythmic; drug-resistant epilepsy; axial hypotonia, spasticity, scoliosis; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features; MRI brain 2y6m-normal Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-05 10:17:31 +01:00 (CET) Date last edited N/A

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